1 in 8 women in the United States will be diagnosed with breast cancer in her lifetime. In 2025, an estimated 316,950 women and 2,800 men are expected to be diagnosed with invasive breast cancer. These rising numbers highlight the urgent need for improved detection and treatment strategies.
Genetic testing, particularly for BRCA1 and BRCA2 mutations, is vital in identifying high-risk individuals. While traditional BRCA testing often requires clinical visits, at-home BRCA test kits now provide a more accessible option for those seeking genetic insights.
This blog outlines key BRCA testing methods, including at-home kits and RNA sequencing techniques, and how Biostate AI provides researchers with reliable RNA sequencing solutions for deeper genetic insights.
What Are BRCA Genes and Their Role in Cancer Risk?
BRCA1, BRCA2, and PALB2 are genes that play a key role in increasing the risk of breast and other cancers, particularly ovarian cancer.
These genes are crucial because identifying pathogenic variants (PVs) in them allows for early detection and intervention, which can significantly reduce the risk of developing certain cancers.
When a woman is diagnosed with breast cancer and has a high-risk PV in a BRCA gene, she may choose preventive measures, such as a bilateral mastectomy (a surgical procedure where both breasts are removed), to lower the risk.
What Is BRCA Testing?
BRCA testing is a genetic test designed to identify mutations in the BRCA1, BRCA2, and PALB2 genes. In the past, this testing was mainly offered to individuals with a strong family history of cancer due to its complexity and cost.
However, advancements in Next-Generation Sequencing (NGS) have made genetic testing faster, more accessible, and widely available to breast cancer patients at diagnosis. NGS can detect small mutations that older methods may miss and screen multiple genes at once, providing more precise insights for treatment decisions.
One innovative approach, BRCA-DIRECT, uses a digital platform and postal saliva sampling, making testing more efficient and widely available.
Overview of BRCA Gene Testing At-Home
At-home BRCA gene testing offers a convenient way to assess your genetic risk for breast and ovarian cancers. Unlike traditional testing, which often requires multiple clinic visits and long wait times, at-home kits simplify the process.
Here are some options for BRCA Gene Testing at home.
- Traditional At-Home BRCA Testing
Traditionally, at-home BRCA testing has been available to individuals without a prescription. The process is relatively simple– a saliva or cheek swab sample is collected at home and sent to a lab for analysis.
These tests generally focus on a limited number of mutations, usually the three most common harmful variants in the BRCA1 and BRCA2 genes, out of over 1,000 known mutations.
While these tests offer a convenient and affordable option for individuals interested in assessing their genetic risk, they have significant limitations.
Limitations of Traditional At-Home BRCA Testing.
- Incomplete Coverage: Traditional at-home tests often only check for the most common mutations, missing many other potentially harmful variants.
- Lack of Genetic Counseling: These tests typically do not provide access to genetic counseling, which is essential for understanding the results and determining appropriate next steps.
- False Positives: There is a risk of false positive results, which could lead to unnecessary worry and confusion for individuals who receive incorrect results.
- Limited Support: After receiving test results, users often lack professional guidance, which could be crucial for understanding what their results mean and what actions to take next.
Given the limitations of traditional at-home BRCA testing, there’s a growing need for a more comprehensive solution that offers both accurate results and professional support. This is where the BRCA-DIRECT pathway stands out, combining convenient testing with essential guidance for better-informed decisions.
The BRCA-DIRECT Pathway
The BRCA-DIRECT pathway combines digital technology with postal saliva sampling (a method to collect saliva samples at home and send them to a laboratory for analysis), making testing convenient and efficient. BRCA-DIRECT offers access to genetic counseling, ensuring individuals understand their results and receive appropriate guidance. This added support is crucial for navigating complex genetic information and making informed healthcare decisions.
Key Features of the BRCA-DIRECT Pathway.
- Postal Saliva Sampling: Like traditional tests, participants collect a saliva sample at home using a provided kit and mail it to the lab for analysis.
- Digital Platform: An online portal guides participants through the testing process, provides clear instructions, manages consent, and delivers negative results in a timely manner.
- Genetic Counselor Helpline: Participants have access to a genetic counselor helpline to answer clinical questions and provide support with any technical aspects of the process.
Key Differences Between Traditional At-Home BRCA Testing and BRCA-DIRECT Pathway
| Feature | Traditional At-Home BRCA Testing | BRCA-DIRECT Pathway |
| Mutation Coverage | Limited to common BRCA1/BRCA2 mutations (often only 3 variants). | Screens for a broader range of mutations, improving accuracy. |
| Genetic Counseling | Rarely included, leaving users without professional guidance. | Provides access to genetic counseling before and after testing. |
| Result Interpretation | Results may lack context, causing confusion or unnecessary concern. | Results are delivered with clear explanations and personalized support. |
| Accessibility | Available without a prescription but often lacks healthcare integration. | Integrated with healthcare services, ensuring follow-up care if needed. |
| Testing Process | Typically, it involves a saliva or cheek swab sample sent to a lab. | Uses a postal saliva sampling method combined with a digital platform for easier management. |
While traditional at-home BRCA testing offers convenience, it often leaves individuals with unanswered questions and incomplete insights.
The BRCA-DIRECT pathway fills this gap by combining reliable testing with essential guidance, helping individuals make informed choices about their health.
Once testing is complete, understanding the results is the next crucial step.
Understanding BRCA Gene Testing Results
BRCA gene testing results can provide critical insights into an individual’s genetic risk for breast and ovarian cancers. The results can help guide decisions about preventive measures, treatment options, and lifestyle changes.
Here’s what different BRCA testing outcomes mean, tailored for individuals considering their cancer risk.
A positive BRCA test result means a harmful mutation was identified in the BRCA1 or BRCA2 gene. This increases the individual’s risk of developing certain cancers, particularly breast and ovarian cancer.
However, it does not mean that cancer is certain to develop. Some individuals with BRCA mutations may never experience cancer, while others may benefit from early intervention strategies to manage their risk.
A negative BRCA test result means no harmful mutation was detected in the BRCA1 or BRCA2 genes. If a close relative has a confirmed BRCA mutation, a negative result indicates that the tested individual did not inherit that mutation.
However, this does not eliminate the risk of developing cancer. The individual may still face the same baseline risk as the general population or have other genetic or lifestyle factors influencing their risk.
A VUS result indicates a change in the BRCA1 or BRCA2 gene, but its impact on cancer risk is unclear. This type of result is common as genetic research continues to evolve. As more evidence emerges, VUS findings may be reclassified as either benign (the identified gene change is harmless) or harmful.
While waiting for reclassification, healthcare providers typically recommend managing cancer risk based on family history, personal risk factors, and standard screening guidelines.
- Inconclusive
If the result is inconclusive, it means the test could not determine whether a mutation is present. This could happen due to various reasons, including issues with the sample or the complexity of the genetic data. It’s advisable to follow up with a healthcare provider to determine the next steps, including re-testing or further investigation.
In any case, speaking with a genetic counselor can help explain these results and guide decisions about cancer risk management.
Risk of Cancer with BRCA Mutations
According to the National Cancer Institute (NCI), women with a BRCA1 mutation face a 72% risk of developing breast cancer by age 80, while those with a BRCA2 mutation face a 69% risk. This is significantly higher than the general population, where about 13% of women develop breast cancer.
Additionally, women with a BRCA1 mutation have a 44% chance of developing ovarian cancer, while those with BRCA2 mutations face a 17% risk. These statistics highlight the critical importance of genetic testing for those at higher risk.
Why Understanding Your BRCA Test Results Matters?
Knowing your BRCA gene status can empower you to take control of your health. Understanding your results is a crucial first step, whether you’re considering preventive measures to reduce your cancer risk, exploring treatment options if diagnosed, or simply learning more about your genetic makeup.
The higher cancer risks associated with BRCA mutations mean that early intervention and informed decision-making can make a significant difference. Consulting with a genetic counselor or healthcare provider can guide you through the process, ensuring you understand your results and the best course of action moving forward.
BRCA Gene Testing with RNA Sequencing
RNA sequencing (RNA-seq) adds another layer of insight to BRCA gene testing by examining how these mutations impact gene expression and protein production. While DNA testing detects mutations, RNA sequencing shows how those mutations affect cellular functions and potentially lead to cancer.
Here’s how RNA-Seq enhances BRCA testing.
- Gene Expression: RNA-Seq shows how BRCA mutations impact gene expression. For example, some genes may become overactive or suppressed, affecting cancer pathways. This helps researchers understand the biological effects of BRCA mutations.
- Cancer Risk: RNA-Seq helps assess cancer risk by revealing how BRCA mutations influence gene activity. While BRCA mutations increase cancer risk, not everyone with these mutations develops cancer. RNA-Seq helps explain this by identifying differences in gene expression.
- Tumor Behavior: RNA-seq offers insights into how tumors behave at the molecular level, aiding in more personalized treatments.
RNA sequencing complements BRCA testing by providing deeper insights into gene expression and tumour behaviour. It helps researchers better understand cancer risk and potential treatment approaches.
Winding Up!
Genetic testing for BRCA mutations helps assess cancer risk, but at-home tests may miss key insights. The BRCA-DIRECT pathway combines digital support with expert guidance for clearer results. For researchers, RNA sequencing offers deeper insights by revealing how BRCA mutations impact gene activity, improving understanding of cancer development and treatment responses.
At Biostate AI, we provide affordable and reliable RNA sequencing services to help researchers understand gene expression. Our total RNA sequencing helps scientists study mRNA, lncRNA, miRNA, and piRNA from various sample types, including FFPE tissue and small blood volumes.
Whether you’re exploring cellular pathways, investigating treatment responses, or analyzing gene activity, our data insights can help drive meaningful discoveries. Get your quote today!
FAQs
- Can RNA sequencing identify BRCA mutations on its own?
A: No, RNA sequencing doesn’t directly identify BRCA mutations. However, it does reveal how known mutations impact gene expression and cellular functions, providing insights beyond what DNA testing shows.
- Is RNA sequencing useful for individuals without BRCA mutations?
A: Yes, RNA sequencing can reveal other gene expression changes linked to cancer development, even in those without BRCA mutations.
- Can RNA sequencing detect early signs of cancer linked to BRCA mutations?
A: While RNA sequencing isn’t designed for early cancer detection, it can uncover molecular changes that indicate altered gene activity, which may signal developing risks.
Sources
National Cancer Institute: IF 10.6